Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ARC 0 genome.wustl.edu 37 8 143695260 143695260 + Missense_Mutation SNP G G A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 8 143695260 143695260 G A SNP ARC ENST00000356613 human ensembl 69_37n -1 known missense c.373 p.R125C 0.742 prints_Activity-reg_cytoskelet-assoc prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 16 0 0.00 11 4 26.67 - - - BPIFB3 0 genome.wustl.edu 37 20 31656715 31656715 + Missense_Mutation SNP C C A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 20 31656715 31656715 C A SNP BPIFB3 ENST00000375494 human ensembl 69_37n +1 known missense c.1085 p.A362D 0.362 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 108 1 0.92 34 4 10.53 - - - C2orf73 0 genome.wustl.edu 37 2 54587645 54587645 + Silent SNP T T C TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 2 54587645 54587645 T C SNP C2orf73 ENST00000398634 human ensembl 69_37n +1 known silent c.810 p.D270 0.000 NULL NULL - no_errors C2orf73 HGNC ENSG00000177994 38 0 0.00 25 6 19.35 - - - CECR2 0 genome.wustl.edu 37 22 18028506 18028506 + Missense_Mutation SNP C C T TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 22 18028506 18028506 C T SNP CECR2 ENST00000400573 human ensembl 69_37n +1 novel missense c.3463 p.R1155C 0.994 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 101 0 0.00 41 16 28.07 - - - CEP290 0 genome.wustl.edu 37 12 88472999 88472999 + Missense_Mutation SNP C C T TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 12 88472999 88472999 C T SNP CEP290 ENST00000309041 human ensembl 69_37n -1 known missense c.5240 p.S1747N 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 80 0 0.00 35 24 40.68 - - - CSMD2 0 genome.wustl.edu 37 1 34090712 34090712 + Silent SNP G G A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 1 34090712 34090712 G A SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known silent c.5439 p.I1813 0.008 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 35 0 0.00 17 5 22.73 - - - DSCAM 0 genome.wustl.edu 37 21 41719645 41719645 + Missense_Mutation SNP G G A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 21 41719645 41719645 G A SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known missense c.1162 p.R388C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 157 0 0.00 59 22 27.16 - - - DYSF 0 genome.wustl.edu 37 2 71827844 71827844 + Frame_Shift_Del DEL T T - TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 2 71827844 71827844 T - DEL DYSF ENST00000413539 human ensembl 69_37n +1 known frame_shift_del c.3808 p.F1270fs 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 29 0 0.00 8 2 20.00 - - - ERN1 0 genome.wustl.edu 37 17 62130251 62130251 + Silent SNP G G A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 17 62130251 62130251 G A SNP ERN1 ENST00000433197 human ensembl 69_37n -1 known silent c.2142 p.L714 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom - no_errors ERN1 HGNC ENSG00000178607 90 0 0.00 18 15 45.45 - - - EWSR1 0 genome.wustl.edu 37 22 29694792 29694792 + Missense_Mutation SNP G G C TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 22 29694792 29694792 G C SNP EWSR1 ENST00000414183 human ensembl 69_37n +1 known missense c.1502 p.G501A 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 94 0 0.00 16 14 46.67 - - - FAT2 0 genome.wustl.edu 37 5 150922760 150922760 + Missense_Mutation SNP A A T TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 5 150922760 150922760 A T SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.7928 p.V2643D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 76 0 0.00 25 11 30.56 - - - FRMD4A 0 genome.wustl.edu 37 10 13852832 13852832 + Missense_Mutation SNP A A G TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 10 13852832 13852832 A G SNP FRMD4A ENST00000357447 human ensembl 69_37n -1 known missense c.188 p.I63T 0.999 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 82 0 0.00 31 10 24.39 - - - GRM7 0 genome.wustl.edu 37 3 7620374 7620374 + Missense_Mutation SNP C C T TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 3 7620374 7620374 C T SNP GRM7 ENST00000402647 human ensembl 69_37n +1 known missense c.1781 p.P594L 1.000 pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 76 0 0.00 25 16 39.02 - - - HDAC2 0 genome.wustl.edu 37 6 114292110 114292112 + In_Frame_Del DEL CTG CTG - TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 6 114292110 114292112 CTG - DEL HDAC2 ENST00000398283 human ensembl 69_37n -1 known in_frame_del c.245_243 p.S81in_frame_del 0.004:0.002:0.001 NULL pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 19 0 0.00 2 2 50.00 - - - HSD17B4 0 genome.wustl.edu 37 5 118835164 118835164 + Silent SNP C C T TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 5 118835164 118835164 C T SNP HSD17B4 ENST00000256216 human ensembl 69_37n +1 known silent c.1125 p.P375 0.993 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 112 0 0.00 40 18 31.03 - - - IGKV3-15 0 genome.wustl.edu 37 2 89385160 89385160 + Silent SNP G G A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 2 89385160 89385160 G A SNP IGKV3-15 ENST00000390252 human ensembl 69_37n -1 known silent c.27 p.F9 0.791 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3-15 HGNC ENSG00000244437 51 0 0.00 20 6 23.08 - - - ILVBL 0 genome.wustl.edu 37 19 15226086 15226086 + Frame_Shift_Del DEL G G - TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 19 15226086 15226086 G - DEL ILVBL ENST00000263383 human ensembl 69_37n -1 known frame_shift_del c.1876 p.R626fs 1.000 NULL pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 63 0 0.00 17 2 10.53 - - - KRTAP13-2 0 genome.wustl.edu 37 21 31744287 31744287 + Missense_Mutation SNP C C A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 21 31744287 31744287 C A SNP KRTAP13-2 ENST00000399889 human ensembl 69_37n -1 known missense c.245 p.R82L 0.321 pfam_PMG pfam_PMG - no_errors KRTAP13-2 HGNC ENSG00000182816 146 0 0.00 54 20 27.03 - - - LMO3 0 genome.wustl.edu 37 12 16713405 16713405 + Missense_Mutation SNP G G C TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 12 16713405 16713405 G C SNP LMO3 ENST00000541295 human ensembl 69_37n -1 known missense c.328 p.R110G 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 124 0 0.00 44 16 26.67 - - - MAP3K1 0 genome.wustl.edu 37 5 56178135 56178136 + Frame_Shift_Ins INS - - A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 5 56178135 56178136 - A INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.3108_3109 p.D1037fs 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 63 0 0.00 14 10 41.67 - - - MED12 0 genome.wustl.edu 37 X 70361800 70361800 + Missense_Mutation SNP A A G TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e X 70361800 70361800 A G SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.6485 p.Q2162R 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 113 0 0.00 24 18 42.86 - - - MIS12 0 genome.wustl.edu 37 17 5392578 5392578 + Missense_Mutation SNP A A T TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 17 5392578 5392578 A T SNP MIS12 ENST00000381165 human ensembl 69_37n +1 known missense c.396 p.L132F 0.000 pfam_Centromere_Mis12 pfam_Centromere_Mis12 - no_errors MIS12 HGNC ENSG00000167842 74 0 0.00 30 21 41.18 - - - MMP15 0 genome.wustl.edu 37 16 58074022 58074022 + Frame_Shift_Del DEL C C - TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 16 58074022 58074022 C - DEL MMP15 ENST00000219271 human ensembl 69_37n +1 known frame_shift_del c.684 p.L229fs 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP15 HGNC ENSG00000102996 33 0 0.00 6 2 25.00 - - - MRPL46 0 genome.wustl.edu 37 15 89008087 89008087 + Nonsense_Mutation SNP G G A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 15 89008087 89008087 G A SNP MRPL46 ENST00000312475 human ensembl 69_37n -1 known nonsense c.436 p.R146* 0.746 NULL pfam_Ribosomal_L46,superfamily_NUDIX_hydrolase_dom-like - no_errors MRPL46 Clone_based_vega_gene ENSG00000259494 81 0 0.00 41 16 28.07 - - - NAV3 0 genome.wustl.edu 37 12 78569098 78569098 + Missense_Mutation SNP G G A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 12 78569098 78569098 G A SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known missense c.4994 p.R1665K 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 125 0 0.00 51 29 36.25 - - - PADI2 0 genome.wustl.edu 37 1 17419026 17419026 + Missense_Mutation SNP G G C TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 1 17419026 17419026 G C SNP PADI2 ENST00000375486 human ensembl 69_37n -1 known missense c.532 p.L178V 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 69 0 0.00 20 6 23.08 - - - PPID 0 genome.wustl.edu 37 4 159640438 159640438 + Missense_Mutation SNP A A C TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 4 159640438 159640438 A C SNP PPID ENST00000307720 human ensembl 69_37n -1 known missense c.227 p.I76S 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC ENSG00000171497 116 0 0.00 65 27 29.35 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + RNA SNP C C T TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e Y 10037843 10037843 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 38 0 0.00 13 4 23.53 - - - SCN7A 0 genome.wustl.edu 37 2 167263066 167263066 + Missense_Mutation SNP C C T TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 2 167263066 167263066 C T SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known missense c.4073 p.R1358H 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 26 0 0.00 11 4 26.67 - - - SLC29A2 0 genome.wustl.edu 37 11 66136839 66136839 + Splice_Site DEL C C - TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 11 66136839 66136839 C - DEL SLC29A2 ENST00000357440 human ensembl 69_37n -1 known splice_site_del c.275+1 e3+1 1.000 - - - no_errors SLC29A2 HGNC ENSG00000174669 43 0 0.00 12 2 14.29 - - - SYNPO2L 0 genome.wustl.edu 37 10 75406545 75406545 + Silent SNP C C T TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 10 75406545 75406545 C T SNP SYNPO2L ENST00000394810 human ensembl 69_37n -1 known silent c.2865 p.R955 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 51 0 0.00 19 8 29.63 - - - TMEM99 0 genome.wustl.edu 37 17 38991201 38991201 + Missense_Mutation SNP G G A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 17 38991201 38991201 G A SNP TMEM99 ENST00000301665 human ensembl 69_37n +1 known missense c.433 p.V145I 0.003 NULL NULL - no_errors TMEM99 HGNC ENSG00000167920 101 0 0.00 33 9 21.43 - - - TYSND1 0 genome.wustl.edu 37 10 71905831 71905831 + Missense_Mutation SNP G G A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 10 71905831 71905831 G A SNP TYSND1 ENST00000287078 human ensembl 69_37n -1 known missense c.512 p.S171L 0.970 pirsf_Pept_S1A_Tysnd1 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1 - no_errors TYSND1 HGNC ENSG00000156521 23 0 0.00 8 4 33.33 - - - ZNF217 0 genome.wustl.edu 37 20 52192368 52192368 + Missense_Mutation SNP C C A TCGA-A1-A0SG-01A-11D-A142-09 TCGA-A1-A0SG-10B-01D-A17G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 39642c6d-9191-4746-8a9d-62d437bfdce8 cd67f058-5ac6-427c-8b3d-d5732ca6683e 20 52192368 52192368 C A SNP ZNF217 ENST00000302342 human ensembl 69_37n -1 known missense c.2935 p.D979Y 0.121 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 71 0 0.00 27 14 34.15 - - -